Who will benefit from the human genome?

Mapping the human genome is a great human
achievement, rather like climbing Mount Everest. Like climbing
Mount Everest, it will benefit few people, leaving most
untouched. But unlike climbing Mount Everest, it has the
potential to damage large numbers of people. So it is important
to cut through the exaggerated expectations and to assess
the probable benefits and costs.

Benefits should arise through eventual
identification of the tens of thousands of genes in the whole
genome. As genes are identified they can be used for:

gene therapy

tailor made pharmaceutical products

predictive testing, either antenatally
or later

to improve the understanding of
disease mechanisms.

These possible benefits must be assessed,
however, in the context of what medicine has actually achieved.
Of 32 years improvement in life expectancy in the 20th century,
just 10% was the result of advanced medical care (and half of
that was due to childhood immunisation). Most of our good health
- and being one of the rich countries of the world, we are one of
the healthiest - has come from environmental improvements: clean
water, modern sewage disposal, better housing and so on. Yet we
spend 50 times as much per head of population on health care as
is spent on the 5 billion people living outside OECD countries.

One reason for all the hype about the human
genome project may be that recent medical research has produced
little of value, and medical scientists are desperate for
something dramatic. Clinical trials and meta-analyses get ever
larger because such small improvements are looked for; many now
are only designed to show equivalence: that the new drug is just
about as good as what we have already. But virtually no research
is done on the major tropical diseases that kill many millions
each year: just 1% of the new drugs marketed in the last 25 years
are useful in such diseases. And how is it that after 30 years of
being fed a weekly diet by the main cancer charities of the
latest greatest breakthroughs, there have been only marginal
improvements in cancer cure and survival rates?

That medical research achieves so little
may be because most is no longer done for the benefit of mankind.
Most is now done for personal career advancement or to benefit
the shareholders of pharma and biotech companies. This is seen
par excellence in the human genome project. In research done for
such motives there is no reason to allow the rest of society to
keep up. If the research were genuinely intended to benefit
humanity, researchers would ensure that those assessing its
social and ethical issues, and the general public, could keep up.

Gene therapy: much has
been made of the possibilities of curing diseases caused by
single abnormal genes. But despite over a decade of hype, the
worldwide score for gene therapy is: Cures: 0, Deaths: at least
5, Serious Adverse Events: at least 1,000. Mapping the human
genome is unlikely to help gene therapy move beyond being only
occasionally effective, in a few rare diseases, at great cost.

Pharmaceutical products:
it is claimed that precise knowledge of the proteins coded for by
specific genes will allow the creation of drugs more accurately
aimed at specific proteins. In diseases caused by a variety of
genes, each individual would be tested to see which gene he/she
carried, and a precisely tailored drug could then be prescribed.
The problem is that most chronic diseases, affecting enough
Western people for the pharmaceutical industry to be interested
in them, are multifactorial. Not only are several genes involved
in the aetiology, but so is the environment. In the case of high
blood pressure only about 30% of the disease burden is
genetically determined. So it is reasonable to apply the general
rule of drug development in pharmacogenetics:

the benefits of a new drug are
overestimated before its use,

the risks of a new drug are
underestimated before its use, and

the cost is greater than for existing
drugs.

Genetic testing: there
will be a relatively small number of instances in which testing
in adult years will produce results that have an important
influence on life decisions. For instance, a positive test for
Huntington's Disease presymptomatically might lead to a decision
not to have children. There is, however, a widespread assumption
among many genetic researchers that, on the whole, people would
rather know about their genes than not know. The evidence points
the other way: most people prefer to remain in ignorance. A
further problem is that even when people have been tested, they
may find it difficult to make the lifestyle changes that the test
results suggest are necessary, leading to anxiety or fatalism.
Most testing will be done antenatally, but the only purpose is
either to abort an affected fetus or not to implant an affected
embryo, thus leading us ever further down the road to a negative
eugenics.